What are the other Names for this Condition? (Also known as/Synonyms)

• Congenital Anterior Cervical Hypertrichosis with Peripheral Sensory and Motor Neuropathy

What is Charlie M Syndrome? (Definition/Background Information)

• Charlie M Syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia-hypodactyly and glossopalatine ankylosis
• The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis
• Patients with Charlie M Syndrome also present with hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet
• There have been no further descriptions in the literature since 1976

(Source: Charlie M Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Charlie M Syndrome? (Age and Sex Distribution)

• Charlie M Syndrome is an extremely rare congenital disorder. The presentation of symptoms may occur at birth
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Charlie M Syndrome? (Predisposing Factors)

• Currently, no risk factors have been clearly identified for Charlie M Syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Charlie M Syndrome? (Etiology)

The exact cause of development of Charlie M Syndrome is presently unknown.

What are the Signs and Symptoms of Charlie M Syndrome?

The signs and symptoms of Charlie M Syndrome may include:

Very frequently present symptoms in 80-99% of the cases:

• Abnormal toenail morphology
• Abnormality of the fingernails
• Brachydactyly
• Finger syndactyly
• Hypertelorism
• Micrognathia
• Narrow mouth
• Non-midline cleft lip
• Reduced number of teeth
• Split hand
• Thin vermilion border

Frequently present symptoms in 30-79% of the cases:

Occasionally present symptoms in 5-29% of the cases:

• Macrotia
• Triphalangeal thumb

(Source: Charlie M Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Charlie M Syndrome Diagnosed?

Charlie M Syndrome is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Charlie M Syndrome?

The complications of Charlie M Syndrome may include:

• Facial and oral deformities
• Severe emotional stress

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Charlie M Syndrome Treated?

Presently, there is no cure for Charlie M Syndrome. The treatment is usually given to manage the signs and symptoms and any complications that develops.

How can Charlie M Syndrome be Prevented?

• Currently, Charlie M Syndrome may not be preventable, since the cause of this disorder is unknown
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Charlie M Syndrome? (Outcomes/Resolutions)

• The prognosis of Charlie M Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Charlie M Syndrome:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/